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Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open?angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier–Osguthorpe–Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)?enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/ heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.
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Introduction: Good glycemic control has been defined as achieving a target of fasting plasma glucose level of between 80 and 110 mg/dl, or glycosylated haemoglobin (HbA1C) of <7.0%. Poor glycemic control is highly correlated with chronic conditions related to the damaging effects of hyperglycaemia, resulting in serious complications. To restrict and delay the complications of diabetes mellitus, good glycemic control is essential. Objective: To identify the determinants associated with poor glycemic control among Type 2 diabetes mellitus patients. Method: A cross sectional study was conducted among 403 confirmed type 2 diabetic patients who attendedone of the tertiary care hospitals of North India over a period of six months (July- December 2021). The collected data was analysed using IBM SPSS version 28. Chi-square test was applied to compare various determinants of glycemic control. A p-value of <0.05 was considered to be statistically significant. Results: Out of 403 participants, 57.6% had poor glycemic control of diabetic condition. Higher age of participants, illiteracy, being overweight, having positive history of smoking and alcohol, longer duration of diabetes, participants taking both oral and insulin treatment for diabetes, taking medicine irregularly were the significant determinants of poor glycemic control. Conclusion: Higher percentage(57.6%) of poor glycemic control was observed in the study.To improve the glycemic control, efforts should be made towards improving modifiable factors like overweight, smoking, alcohol, regularity of medication etc. Good lifestyle interventions help in control of poor glycemic control.
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Painful menstrual cramps during or around the time of the monthly cycle are known as dysmenorrhea. The estimated global prevalence in women of reproductive age ranges from 45% to 95%. It has a significant negative impact on regular activities and productivity at work. However, despite the severe consequences on quality of life, primary dysmenorrhea (PD) is underdiagnosed. Dysmenorrhea has complex pathogenesis. It involves the release of prostaglandins and activation of the nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3) inflammasome and also includes the involvement of other mediators such as bradykinin, histamine and acetylcholine. Even though nonsteroidal anti-inflammatory drugs (NSAIDs) remain the most common type of pain medication, the question of which one should be the most preferred is still open to debate. The current review examines the existing evidence for the pathogenesis of PD and makes evidence based and clinical experience based recommendations for the use of mefenamic acid and its combination in the treatment of dysmenorrhea. Mefenamic acid alleviates PD by inhibiting endometrial prostaglandin formation, restoring normal uterine activity, and reducing the inflammatory response by inhibiting the NLRP3 inflammasome and reducing the release of cytokines such as interleukin (IL)-1?. It is also known to have bradykinin antagonist activity. Dicyclomine has a dual action of blocking the muscarinic action of acetylcholine in postganglionic parasympathetic effect or regions and acting directly on uterine smooth muscle by blocking bradykinin and histamine receptors to relieve spasms. According to the experts, mefenamic acid and dicyclomine act synergistically by acting on the different pathways of dysmenorrhea by blocking multifactorial agents attributed to the cause of dysmenorrhea. Hence, the combination of mefenamic acid and dicyclomine should be the preferred treatment option for dysmenorrhea.
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Introduction: The Nasolacrimal duct is the terminal part of the nasolacrimal apparatus or tear apparatus. The anatomy of lateral nasal wall is Important for planning the surgeries on lacrimal duct through intranasal approach. Objective: The current study was designed to review the anatomy of nasolacrimal duct in relation to the lateral nasal wall. Material and method: Thirty sagittal sections (14 right and 16 left side) of head and neck of formalin fixed adult cadavers of known sex, gender, ethnicity present in department of anatomy GMCH, Chandigarh were studied. The following parameters were made using a digital calliper and rounded off to the nearest millimetres. 1.Length of nasolacrimal duct (NLD Length) 2. Nearest distance from the nasolacrimal duct to maxillary sinus ostium (NLD - MSO) 3. Nearest distance from the NLD to the anterior nasal spine. (NLD- ANS)4. Nearest distance of the intranasal orifice of the NLD to the nasal floor (NLD- NF) 5. Nearest distance of the intranasal orifice of the NLD to the nasal roof. (NSD- NR) 6. Nearest distance of the intranasal orifice of the NLD to the anterior attachment of the Inferior concha. (NSD- AIT). Observations: In our study the average length of the NLD was 19.8±1.57mm. The intranasal orifice of the NLD was observed to be located on an average of 24.5±2.6mm from the anterior nasal spine, ranging from 5.5-2. 9mm.The average distance from the nasal roof was found to be 32.2±1.67mm and 16.08±1.71mm from nasal floor. In addition, the average distance from the anterior attachment of inferior nasal concha was found to be 14.82±2.37mm. In our study the NLD was an average of 4.08±0.67mm anterior to MSO at the level of the anterior attachment of the MT. On Comparing right and left side The NLD Was found to be slightly longer 22.7 in comparison of 22.2 mm on left side. The distance of NLD From MSO was also found to be larger on left side. The distances of NLD-ANS, NLD NR, NLD -AIT and NLD- NF were also longer on left side. Conclusion: We found that most of the parameters were closer to a study done by Ertugel while the NLD-NF distance was more in our specimen. Running title: nasolacrimal duct: morphometry, surgical importance
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Transthyretin cardiac amyloidosis (ATTR-CM) is a rare and under-recognized disorder characterized by the aggregation of transthyretin-derived insoluble amyloid fibrils in the myocardium. Heterogeneity of symptoms at presentation, makes its diagnosis often delayed. An expert panel gathered on a virtual platform across India to conduct a meeting for developing a guiding tool for ATTR-CM diagnosis. The panel recommended younger age (40 years) for suspecting ATTR-CM and thick-walled non-dilated hypokinetic ventricle was considered as one of the important red flags. Electrocardiogram (ECG) and echocardiography (ECHO) findings were recommended as primary tests to raise the suspicion while nuclear scintigraphy and hematological tests were recommended to confirm the diagnosis and rule out amyloid light-chain (AL) amyloidosis. Cardiac magnetic resonance (CMR) and biopsy were recommended in case of ambiguity in the presence of red flags. Considering the lack of expert guidelines in the Indian scenario, a standardized diagnostic algorithm was also proposed.
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Introduction: Since 1990, internet usage is increasing day by day and availability of smart mobile phones and electronic gazettes like tablet, laptop etc. has given it an exponential rise. During COVID-19 lockdown period, internet usage pattern has changed a lot as per behaviour of students studying in schools, colleges, educational and coaching institutes etc. To study the prevalence of internet addictionObjective: and the effect of internet usage on lifestyle of college students of Haryana. Total 1035 students, ofMethod: various educational streams in various colleges of Haryana state were included in the study and data was collected by pretested self-designed questionnaire and young's internet addiction test questionnaire was used to assess its effect on life style. Out of 1035 students, 436(42%) participants were belowResults: average users of internet, followed by 369(36%) average users and 230(22%) excessive users of internet. Average of total score of young internet addiction questionnaire was 27.72. Various life style factors like feeling stressed while working, neglects other activities, miss a diet, checks internet many times, obsessed with phone and internet usage per day were found significantly associated with internet addiction(p<0.05). Conclusion : Excessive internet usage during COVID-19 pandemic may lead to various abnormal behavior changes which cause negative effect on various aspects of students like emotional, hyperactivity, depression, sleeping disorder etc.
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Landfills are considered the main option for dumping of municipal solid waste (MSW) all over the world, but these landfills are mostly non-engineered. The decomposition of solid waste in the landfill and rainwater penetration into the decomposing waste produces leachate that contains dissolved organic and inorganic compounds, heavy metals, suspended particles, and hazardous substances. Leachate migration in the environment may pose serious health risks to organisms exposed. Hence, the present study explored the cytotoxic potential of landfill leachate collected in different seasons from the Okhla landfill site, Delhi, India. Cytotoxicity of leachate samples was evaluatedby cell apoptosis and ultrastructural observation based on Transmission Electron Microscopy (TEM) of the cells of root tips of vicia faba seedlings treated with the leachates collected in summer, winter and monsoon in a time and dose dependent manner. Leachate collected in all the three seasons induced apoptosis in cells of root tips of vicia faba that increased in a time and dose dependent manner when compared to control. The apoptosis was highest in the samples treated with leachate collected in the summer season, followed by winter and monsoon. It was further confirmed with TEM images that there was induction of apoptotic-like morphological changes in the root cells treated with landfill leachate when compared with the control. The present study indicates that municipal solid waste leachate is very toxic and it should be treated before disposing it to the environment.
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Background – Ulnar artery is a branch of brachial artery,it descends superficially and vertically between the FCU and FDS in lower two third of forearm. Then it passes above the fiexor retinaculum at wrist later forming superficial palmar arch. During routine dissection in S.N Medical College, Agra, an unusual finding was Case Report- identified in both the upper limb of a 60 year old male cadaver. Ulnar artery runs laterally to ulnar nerve and then passes underneath the fiexor retinaculum. Then it joins with the Superficial Branch of Radial Artery to form Superficial palmar arch. Variation of Ulnar artery is uncommon.It is important in surgical cases of Carpal tunnel release surgery, also can be confused with superficial veins during interventions
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Purpose: The purpose of this study was to assess the performance of the tertiary centers (TCS) and vision centers (VCs) of the four organizations participating in this research, once the lockdown was lifted, and to compare it with the performance during the same period of the previous year. Methods: This was a cross?sectional study assessing eyecare utilization in the first 2 months after resumption of services post the lockdown in 2020 and comparing that across the same time period in 2019. Anonymized data containing basic demographic details, proportions of patient visits and their reasons, as well as referral information was collected. The drop percentage method was used, and P values were calculated using paired t?tests. Results: Four TCs and 60 VCs were included. Overall, outpatient attendance dipped 51.2% at TCs and 27.5% at VCs, across the 2 years. At both levels of care delivery, the percentage drop in females was more than that in males; however, the overall drop at VCs was less than that at TCs, for both sexes. Eyecare utilization in pediatric populations dropped significantly more than in adult populations, across the overall sample. There was no significant change in referrals for refractive error as a proportion of total outpatients, although there was a significant decline in the same for cataract and specialty treatment. Conclusion: VCs are valuable and successful model for eyecare delivery especially in the continued aftermath of the COVID?19 pandemic
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Self-directed learning (SDL) is a modality where learners are expected to take responsibility for their own learning, diagnose gaps in their learning, frame their own goals and resources for learning, implement appropriate learning strategies and evaluate learning outcomes. Flexibility and creativity in designing assignments for students to work individually or collaboratively are the keys to promoting SDL. The recent competency-based curriculum document from the National Medical Commission does not elaborate the concept or implementation of SDL, leaving it open to individual interpretation. We, herein, discuss the concept of SDL, address common misconceptions surrounding SDL, and elucidate strategies by which SDL skills can be inculcated in medical students using pre-existing opportunities in the curriculum. Flipped classrooms, reciprocal teaching, technology-enhanced methods, problem-based learning, and group projects are excellent ways of promoting SDL. SDL requires efforts and policies both at the teachers’ level and at the institutional level; and is an important input to achieve the goal of being a lifelong learner by the Indian medical graduate.
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Introduction: Pterion is a H-Shaped formation of sutures and cranio-metric point on the lateral side of skull. It is marked by the junction of frontal, parietal, greater wing of sphenoid & squamous temporal bone. Objective: The study is aimed to determine prevalence of types of pterions, presence of epipteric bone. We also tried to find pterion’s relationship with anterior branch of middle meningeal artery Materials and methods: Study was done in department of Anatomy, GMCH-32, Chandigarh on 40 adult dried skulls without calvaria, of unknown age, gender and race. The skulls with broken lateral wall were excluded. Skulls were examined for 1. A. prevalence of pterion shape B. Prevalence of bilaterality of similar shape of pterion. C. Prevalence of unilateral variation of pterion on two sides of skull. 2. Epipteric bone A. Presence of epipteric bone B. relation to the suture on both sides. 3. Distance of pterion center point to frontozygomatic suture and upper border of zygomatic arch. 4. relationship of pterion on external and internal surface of skull and on inner side its relationship with anterior branch of Middle meningeal artery. Observations: In the present study 3 types of pterions i.e., Sphenoparietal, stellate, frontotemporal were observed. Sphenoparietal was found to be present bilaterally 40% on both sides. Frontotemporal & stellate were 2.5%. Sphenoparietal type of pterion was 55% on right side & 67.5% on left side. frontotemporal type of pterion was 5% on right side & 2.5% on left side, stellate type was 7.5% on right side & 2.5% on left side. epipteric bone were present in pterion on right side in 32.5% & on left side 27.5%. Pterion was lying approximately 3.5 cm above the zygomatic arch and 2.83 cm behind the posterior margin of frontozygomatic suture. Conclusion: in our study the commonest type of pterion shape was Sphenoparietal. This type was most common to be present bilaterally. Epipteric bone was found in Sphenoparietal type both unilaterally & bilaterally. The anterior branch of MMA was closest and farthest in stellate type.
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Purpose@#The rs641738 C>T in membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) is implicated, along with the rs738409 C>G polymorphism in patatin-like phospholipase domain-containing protein 3 (PNPLA3), in nonalcoholic fatty liver disease (NAFLD). The association of these polymorphisms and NAFLD are investigated in Hispanic children with obesity. @*Methods@#Obese children with and without NAFLD were enrolled at a pediatric tertiary care health system and genotyped for MBOAT7 rs641738 C>T and PNPLA3 rs738409 C>G. NAFLD was characterized by the ultrasonographic presence of hepatic steatosis along with persistently elevated liver enzymes. Genetic variants and demographic and biochemical data were analyzed for the effects on NAFLD. @*Results@#Among 126 enrolled subjects, 84 in the case group had NAFLD and 42 in the control group did not. The two groups had similar demographic distribution. NAFLD was associated with abnormal liver enzymes and elevated triglycerides and cholesterol (pG had an additive effect in NAFLD; however, MBOAT7 rs641738 C>T had no effects alone or synergistically with PNPLA3 polymorphism. NAFLD risk increased 3.7-fold in subjects carrying PNPLA3 GG genotype and decreased in MBOAT7 TT genotype. @*Conclusion@#In Hispanic children with obesity, PNPLA3 rs738409 C>G polymorphism increased the risk for NAFLD. The role of MBOAT7 rs641738 variant in NAFLD is less evident.
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Purpose@#In children overlap of autoimmune hepatitis (AIH) and primary sclerosing cholangitis is labelled as autoimmune sclerosing cholangitis (ASC). The only prospective pediatric study showed a high prevalence of ASC by using endoscopic retrograde cholangiopancreatography. Aims of our study were to find the prevalence of ASC by using magnetic resonance cholangiography (MRC) in AIH and in non-AIH cirrhosis and to compare clinical presentation and outcome of AIH and ASC. @*Methods@#Prospectively we did MRC in 38 children with AIH (cases) and 19 disease controls (Wilson disease). Multiple biliary strictures with proximal dilatation on MRC were taken as definitive changes of ASC. Detail clinical, laboratory parameters, liver histopathology and treatment outcome were recorded. @*Results@#The median age of cases was 11.5 (3–18) years, 22 (57.9%) were girls and 28 (73.7%) were diagnosed as type 1 AIH. MRC was done in 11 children (28.9%) at the time of diagnosis and in 27 (71.1%) after a median follow-up of 2.5 (0.3–10) years. Abnormal MRC changes were seen in 14/38 (36.8%) of AIH and 8/19 (42.1%) of controls. However, definite changes of ASC were present in four (10.5%) children in AIH and none in controls. None of the clinical, laboratory, histological parameters and treatment response were significantly different between ASC and AIH groups. @*Conclusion@#The prevalence of ASC in children with AIH was just 10.5%. We suggest MRC in select group with cholestatic features, inflammatory bowel disease and in those who showed poor response to immunosuppression instead of all children with AIH.
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Purpose@#Serological tests of tissue transglutaminase (TTG) and deamidated gliadin (DGP) antibodies for celiac disease diagnosis show conflicting correlation with histology in young children and in type 1 diabetes mellitus (T1DM). Tests' ability to predict histology and cutoff values based on age and T1DM was evaluated. @*Methods@#A retrospective study of children who had celiac serological tests between 6/1/2002 and 12/31/2014 at a pediatric hospital. @*Results@#TTG IgA displayed similar results in predicting histology between <4.0 and ≥4.0 years age groups with sensitivity 98% and 93%, and specificity 88% and 86%, respectively. In children <4.0 years old, sensitivity for DGP antibodies was 100% and specificity 94%; in ≥4.0 years age groups, sensitivity was 60%, 88% for DGP IgA and IgG and specificity 95%, 96%, respectively. TTG IgA had low specificity in patients with T1DM compared with non-T1DM, 42% vs. 91%. Positive TTG IgA with normal histology was associated with higher T1DM prevalence at 36% compared with negative tests at 4%. Finally, the TTG IgA cutoff value was higher in T1DM at 36 vs. 16.3 units in non-T1DM. DGP IgG cutoff showed similar values between age groups; TTG IgA and DGP IgA cutoffs were lower in <4.0 years at 8.3 and 11.9 units than ≥4.0 years at 23.4 and 19.9, respectively. @*Conclusion@#TTG IgA is sufficient for the <4.0 years age group and DGP antibodies had no advantage over TTG IgA in older children. The cutoff value to determine a positive TTG IgA should be higher for children with T1DM.
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Purpose@#The rs641738 C>T in membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) is implicated, along with the rs738409 C>G polymorphism in patatin-like phospholipase domain-containing protein 3 (PNPLA3), in nonalcoholic fatty liver disease (NAFLD). The association of these polymorphisms and NAFLD are investigated in Hispanic children with obesity. @*Methods@#Obese children with and without NAFLD were enrolled at a pediatric tertiary care health system and genotyped for MBOAT7 rs641738 C>T and PNPLA3 rs738409 C>G. NAFLD was characterized by the ultrasonographic presence of hepatic steatosis along with persistently elevated liver enzymes. Genetic variants and demographic and biochemical data were analyzed for the effects on NAFLD. @*Results@#Among 126 enrolled subjects, 84 in the case group had NAFLD and 42 in the control group did not. The two groups had similar demographic distribution. NAFLD was associated with abnormal liver enzymes and elevated triglycerides and cholesterol (pG had an additive effect in NAFLD; however, MBOAT7 rs641738 C>T had no effects alone or synergistically with PNPLA3 polymorphism. NAFLD risk increased 3.7-fold in subjects carrying PNPLA3 GG genotype and decreased in MBOAT7 TT genotype. @*Conclusion@#In Hispanic children with obesity, PNPLA3 rs738409 C>G polymorphism increased the risk for NAFLD. The role of MBOAT7 rs641738 variant in NAFLD is less evident.
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Purpose@#In children overlap of autoimmune hepatitis (AIH) and primary sclerosing cholangitis is labelled as autoimmune sclerosing cholangitis (ASC). The only prospective pediatric study showed a high prevalence of ASC by using endoscopic retrograde cholangiopancreatography. Aims of our study were to find the prevalence of ASC by using magnetic resonance cholangiography (MRC) in AIH and in non-AIH cirrhosis and to compare clinical presentation and outcome of AIH and ASC. @*Methods@#Prospectively we did MRC in 38 children with AIH (cases) and 19 disease controls (Wilson disease). Multiple biliary strictures with proximal dilatation on MRC were taken as definitive changes of ASC. Detail clinical, laboratory parameters, liver histopathology and treatment outcome were recorded. @*Results@#The median age of cases was 11.5 (3–18) years, 22 (57.9%) were girls and 28 (73.7%) were diagnosed as type 1 AIH. MRC was done in 11 children (28.9%) at the time of diagnosis and in 27 (71.1%) after a median follow-up of 2.5 (0.3–10) years. Abnormal MRC changes were seen in 14/38 (36.8%) of AIH and 8/19 (42.1%) of controls. However, definite changes of ASC were present in four (10.5%) children in AIH and none in controls. None of the clinical, laboratory, histological parameters and treatment response were significantly different between ASC and AIH groups. @*Conclusion@#The prevalence of ASC in children with AIH was just 10.5%. We suggest MRC in select group with cholestatic features, inflammatory bowel disease and in those who showed poor response to immunosuppression instead of all children with AIH.
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Purpose@#Serological tests of tissue transglutaminase (TTG) and deamidated gliadin (DGP) antibodies for celiac disease diagnosis show conflicting correlation with histology in young children and in type 1 diabetes mellitus (T1DM). Tests' ability to predict histology and cutoff values based on age and T1DM was evaluated. @*Methods@#A retrospective study of children who had celiac serological tests between 6/1/2002 and 12/31/2014 at a pediatric hospital. @*Results@#TTG IgA displayed similar results in predicting histology between <4.0 and ≥4.0 years age groups with sensitivity 98% and 93%, and specificity 88% and 86%, respectively. In children <4.0 years old, sensitivity for DGP antibodies was 100% and specificity 94%; in ≥4.0 years age groups, sensitivity was 60%, 88% for DGP IgA and IgG and specificity 95%, 96%, respectively. TTG IgA had low specificity in patients with T1DM compared with non-T1DM, 42% vs. 91%. Positive TTG IgA with normal histology was associated with higher T1DM prevalence at 36% compared with negative tests at 4%. Finally, the TTG IgA cutoff value was higher in T1DM at 36 vs. 16.3 units in non-T1DM. DGP IgG cutoff showed similar values between age groups; TTG IgA and DGP IgA cutoffs were lower in <4.0 years at 8.3 and 11.9 units than ≥4.0 years at 23.4 and 19.9, respectively. @*Conclusion@#TTG IgA is sufficient for the <4.0 years age group and DGP antibodies had no advantage over TTG IgA in older children. The cutoff value to determine a positive TTG IgA should be higher for children with T1DM.
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This systematic review (SR) synthesises recent evidence and assesses the methodological quality of published SRs in the Differential diagnosis of temporomandibular disorders (TMD). A systematic literature search was conducted in the PubMed, Cochrane Library, and Bandolier databases for 1987 to September 2019. Three investigators evaluated the methodological quality of each identified SR using two measurement tools: The assessment of multiple systematic reviews (AMSTAR) and level of research design scoring. Thirty-one SRs met inclusion criteria and 28 were analysed: 20 qualitative SRs and eight meta-analysis.The main aim of this article is to Differential diagnose the pain which is not related to any dental disease. Most of dental clinician have problem to diagnose TMD (Temporomandibular Disorders) and Orofacial Muscle pain. The approach of this article is to simplify the differential diagnosis for better and fast treatment of the respective disease by classifying various TMJ related and muscle related problems